• BMB Reports
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• v.43 no.10
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• pp.698-703
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• 2010

In this study, we characterized two blocks of minisatellites in the 5' upstream region of the BORIS gene (BORIS-MS1, -MS2). BORIS-MS2 was found to be polymorphic; therefore, this locus could be useful as a marker for DNA fingerprinting. We assessed the association between BORIS-MS2 and breast cancer by a case-control study with 428 controls and 793 breast cancers cases. Rare alleles in the younger group (age, <40) were associated with a statistically significant increased risk of breast cancer (odds ratio, 4.84; 95% confidence interval, 1.06-22.22; and P = 0.026). A statistically significant association between the short rare alleles and cancer was identified in the younger group (8.02; 1.01-63.83; P = 0.021). Kaplan-Meier estimates showed that poor prognosis was associated with patients who contained the rare alleles. Our data suggest that the short rare alleles of BORIS-MS2 could be used to identify the risk for breast cancer in young patients.

• Journal of Ecology and Environment
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• v.36 no.3
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• pp.193-204
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• 2013

Altitudinal patterns of plant species richness and the effects of area, the mid-domain effect, climatic variables, net primary productivity and latitude on observed richness patterns along the ridge of the Baekdudaegan Mountains, South Korea were studied. Data were collected from 1,100 plots along a 200 to 1,900 m altitudinal gradient on the ridge. A total of 802 plant species from 97 families and 342 genera were recorded. Common and rare species accounted for 91% and 9%, respectively, of the total plant species. The altitudinal patterns of species richness for total, common and rare plants showed distinctly hump-shaped patterns, although the absolute altitudes of the richness peaks varied somewhat among plant groups. The mid-domain effect was the most powerful explanatory variable for total and common species richness, whereas climatic variables were better predictors for rare plant richness. No effect of latitude on species richness was observed. Our study suggests that the mid-domain effect is a better predictor for wide-ranging species such as common species, whereas climatic variables are more important factors for range-restricted species such as rare species. The mechanisms underlying these richness patterns may reflect fundamental differences in the biology and ecology of different plant groups.

• Child Health Nursing Research
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• v.17 no.1
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• pp.58-67
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• 2011

Purpose: This study was done to explore the meaning of joys and sorrows in mothers of children with Mucopolysaccharidosis (MPS). Methods: The participants were 9 mothers who each had a child with MPS. Data were gathered using in-depth interviews. The interviews were recorded and transcribed verbatim. Data were analyzed using Colaizzi method. Results: The significant results from analyzing the interviews can be grouped into 12 concept descriptions, and 5 theme clusters. The essential theme clusters for the experience of the mothers were 'hopelessness about this rare disease', 'guilt because of the disease being hereditary, 'endless courses of treatment', 'wounds in the relationship', and 'relative composure of mind'. Conclusion: The finding of this study offer profound information on joys and sorrows experienced by mothers of children with MPS and provide basic data for developing nursing intervention strategies for the mothers of children with rare diseases.

• Journal of Korean Neurosurgical Society
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• v.52 no.4
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• pp.404-406
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• 2012

The occurrence of symptomatic pituitary hemorrhage into a Rathke's cleft cyst (RCC) is extremely rare. The author reports an interesting case of intra- and suprasellar RCC presented with features of pituitary apoplexy. This 62-year-old woman suffered acute headache, mental confusion, and partial hypopituitarism. The characteristics of the magnetic resonance imaging seemed most compatible with a hemorrhagic pituitary adenoma. Transsphenoidal drainage of the cyst contents confirmed the diagnosis of hemorrhagic RCC and resolved the symptoms. All published data on this rare clinical entity are extracted and reviewed.

• Korean Journal of Plant Taxonomy
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• v.52 no.1
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• pp.24-28
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• 2022

Pteris griffithii Hook., one of the rarest fern species on the Indian subcontinent, is reported from Bhutan for the first time. The identity of this species was confirmed through morphological determination at the National Herbarium (THIM) of the National Biodiversity Centre (NBC) of Bhutan. It was found only in one location, in Gyelpozhing in eastern Bhutan, at an elevation of 521 m a.s.l. on 10 January 2016. Given that a very limited study of this species was conducted, the knowledge baseline with regard to its distribution is poor. It is also reported that this species has not been found for several years. The species is also considered to be very rare or critically endangered in some countries; however, there are no assessments on the International Union for Conservation of Nature (IUCN) Red List for this particular species. This paper attempts to provide baseline information considering its rarity and data deficiency. This species is also reported from the adjacent neighboring Indian state of Arunachal Pradesh as very rare, and also from Myanmar; however, confirmation of its presence in China is not clear at this time. Therefore, considering its data deficient status, we attempt to document it scientifically to create a knowledgebase pertaining to this particular species. Concurrently, this species merits further research to understand its distribution patterns in Bhutan and any related anthropogenic threats.

• Resources Recycling
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• v.28 no.3
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• pp.26-34
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• 2019

Due to the increasing demand of rare earth magnet for various application, it is predicted that the amount of waste rare earth magnet will increase sharply. The process of waste rare earth magnet recycling is mainly consisted of leaching and separation of rare earth element contained in the magnet. However, there is no study on the breakage characteristics of the waste rare earth magnet for production of magnet powder. Therefore, in this study, effective crushing/grinding process and breakage characteristics were investigated for waste rare earth magnet. In the case of jaw crusher, the particle size of magnet was effectively reduced without rapid oxidation. In ball mill grinding test, it was found that the grinding process was not performed properly at the early stage of grinding. Moreover, waste rare earth magnet showed very low specific rate of breakage(S) and high fraction of fine particle breakage distribution(B) compared to ordinary minerals. These results can be used as a basic data for developing crushing/grinding circuit of waste rare earth magnet.

• Journal of mucopolysaccharidosis and rare diseases
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• v.2 no.2
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• pp.38-40
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• 2016

Prader-Willi syndrome (PWS) is a rare genetic disorder often caused by a deletion of the chromosome 15q11-q13 region inherited from the father or by maternal disomy 15. Growth hormone deficiency with short stature, hypogonadism, cognitive and behavioral problems, analgesia, decreased gastric motility and decreased ability to vomit with hyperphagia are common in PWS leading to severe obesity in early childhood, if not controlled. The goal of this study is to investigate the effects of recombinant human GH (rhGH, henceforth designated GH) on the gene expression related to cognitive function in the brain of PWS mouse model (Snord116del). GH restored the mRNA expression level of several genes in the cerebellum. These data suggest the effect of GH on the expression of cognitive function related genes in cerebellum may provide a mechanism for the GH-induced brain function in PWS patients.

• Journal of mucopolysaccharidosis and rare diseases
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• v.5 no.1
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• pp.39-41
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• 2021

Prader-Willi syndrome (PWS) is a rare genetic neurodevelopmental disorder of hyperphagia leading to severe obesity, intellectual deficits, compulsivity, and other behavioral problems. PWS is caused by the inactivation of contiguous genes on chromosome 15q11-q13, which complicates the development of targeted, effective therapeutics. Various preclinical studies have been conducted by developing mouse models that exhibit phenotypes similar to PWS. Oxytocin deficiency in PWS is associated with hyperphagia with impaired satiety and, food-seeking and behavior disorders. Here, we summarize the oxytocin study of ingestion behavior tested in the PWS mouse model and published data from clinical trials that have evaluated treatment effectiveness on ingestion behavior and social dysfunction in patients with PWS.

• Archives of Craniofacial Surgery
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• v.22 no.1
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• pp.56-61
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• 2021

Sebaceous carcinoma (SC) is a rare tumor, accounting for approximately 0.7% of skin cancers. SC can be classified as ocular SC (OSC) or extraocular SC (EOSC) depending on its location. Because EOSC accompanied by metastases is rare, there is a paucity of data about EOSC accompanied by metastasis. This study presents a case of an aggressive EOSC of the scalp with lymph node metastases. The patient underwent wide local excision of the primary tumor with a 1 cm safety margin and bilateral radical lymph node dissection. However, recurrence was observed 1 month after surgery. Radiation therapy and resection were performed for the recurrent tumor. However, distant metastases to both lungs eventually occurred. Here, we describe a rare recurrent case of EOSC of the scalp with distant organ metastasis with a review of the literature.

• Genomics & Informatics
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• v.19 no.3
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• pp.28.1-28.4
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• 2021

Since only a small number of patients have a rare disease, it is difficult to identify all of the features of these diseases. This is especially true for patients uncommonly presenting with rare diseases. It can also be difficult for the patient, their families, and even clinicians to know which one of a number of disease phenotypes the patient is exhibiting. To address this issue, during Biomedical Linked Annotation Hackathon 7 (BLAH7), we tried to extract Alexander disease patient data in Portable Document Format. We then visualized the phenotypic diversity of those Alexander disease patients with uncommon presentations. This led to us identifying several issues that we need to overcome in our future work.